Cardiovascular findings in women suffering from Turner syndrome requesting oocyte donation

Boissonnas, Céline Chalas; Davy, Céline; Marszałek, A.; Duranteau, Lise; Ziegler, Dominique de; Wolf, Jean-Philippe; Cabanes, Laure; Jouannet, Pierre

doi:10.1093/humrep/der262

Cited by 20 publications

(19 citation statements)

References 42 publications

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“…Increasing numbers of women with TS are seeking pregnancy with modern reproductive technologies [57]. However, this population with a high prevalence of cardiac malformations is considered as very high-risk pregnancies [61][62][63][64]. The overall risk for major pregnancy complications in TS women is approximately 10% and the risk of maternal death is approximately 3.5% [64].…”

Section: Turner Syndrome and Pregnancymentioning

confidence: 99%

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Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta. Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. StreszczenieZespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym. Epidemiology, diagnosis and genetics of Turner syndromeTurner syndrome (TS) is a rare congenital disorder caused by sex chromosome haploinsufficiency in a phenotypic female, associated with characteristic clinical features: short stature, primary amenorrhoea and cardiovascular pathology [1,2].The prevalence of TS is 50 per 100,000 live born females in Caucasian populations [2,7]. Prenatal prevalence is much higher than the postnatal, because of the frequent intrauterine mortality [1,37]. If TS is suspected in the intrauterine period, postnatal confirmation must be done [3]. Postnatal diagnosis requires a standard 30-cell karyotype which identifies at least 10% mosaicism with 95% confidence [5,6]. Specific clini...

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Section: Turner Syndrome and Pregnancymentioning

confidence: 99%

“…With appropriate screening and follow-up, the risk of cardiac complications is reduced during pregnancy and delivery [61].…”

Section: Prace Poglądowementioning

confidence: 99%

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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“…Echocardiography is repeated in the first and second trimesters and monthly in the third trimester. CMR is used when echo is unclear or if there is an increase in aortic size …”

Section: Recommendationsmentioning

confidence: 99%

Cardiac magnetic resonance imaging in Turner syndrome

Gutmark‐Little

Backeljauw

2013

Clinical Endocrinology

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SummaryGirls and women with Turner syndrome (TS) have a highly increased morbidity as the result of cardiovascular disease, both congenital and acquired. Increased clinical use of cardiac magnetic resonance imaging (CMR) in patients with TS over recent years has allowed for characterization of disease not always possible with standard imaging modalities, such as echocardiography (echo). In this review, we discuss the current literature regarding CMR in patients with TS and guidelines for its use.

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“…Isolated BAV (without dilatation) is not a contraindication to pregnancy but it is a risk factor for dissection . These women require close cardiac follow‐up during pregnancy and we wish to reinforce the expert recommendation suggesting TTE at the end of the first and second trimester, and monthly during the third . An increase in aortic root diameter of ≥10% between examinations should be confirmed by MRI.…”

Section: Pregnancymentioning

confidence: 99%

“…Although oocyte donation in the general population is frequently associated with pregnancy‐associated hypertensive disorders, the risk is even more pronounced in the TS population, leading to an estimate 2% risk of death from aortic dissection or rupture during pregnancy . PIH should initially be treated with a beta‐blocker and efficacy checked with ambulatory BP monitoring …”

Section: Pregnancymentioning

confidence: 99%

Assessing and addressing cardiovascular risk in adults with Turner syndrome

Turtle

Sule

Bath

et al. 2013

Clinical Endocrinology

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Summary Turner syndrome (TS), the result of a structurally abnormal or absent X chromosome, occurs in one in 2 000 live born females. The phenotype is highly variable, but short stature and gonadal dysgenesis are usually present. The main objective in adults with TS is health surveillance, but TS still causes a reduction in life expectancy of up to 13 years, with cardiovascular disease, congenital or acquired, as the major cause of an early death. While it has been established that all women with TS should undergo in-depth cardiovascular examination at diagnosis, advice on the cardiovascular management of women with TS is limited. Here, we provide a summary of our current practice within a multidisciplinary team, supported by our expertise in various aspects of cardiovascular risk management, and the evidence from research where it is available, with the aim of providing optimal support to our patients with TS.Background A dedicated Adult Turner Clinic was established in South East Scotland in 2002. This gynaecology-led clinic serves a population of roughly 1Á2 million and, currently, reviews around 50 women with TS annually. Referrals for adult care come from paediatrics or general practice. Following a series of individual case discussions regarding the management of more complex cardiovascular problems, we have assembled a dedicated multidisciplinary group to determine a timely cardiovascular screening strategy, a basis for specialist referral, and appropriate hypertension management. This team now includes a paediatric endocrinologist, gynaecologist, cardiologist (with an interest in inherited disorders), vascular radiologist and hypertension specialist. Here, we review the literature on cardiovascular disease in women with TS and, make recommendations, based on relatively limited high-quality evidence, together with our experience, on the optimal timing of cardiovascular screening.

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Cardiovascular findings in women suffering from Turner syndrome requesting oocyte donation

Abstract: Careful follow-up, including cardiac evaluation, should be recommended for women diagnosed with TS, before and after puberty. Moreover, assessment of cardiovascular parameters by a cardiologist familiar with TS should be routinely repeated before undertaking OD.

Cited by 20 publications

References 42 publications

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Cardiac magnetic resonance imaging in Turner syndrome

Assessing and addressing cardiovascular risk in adults with Turner syndrome

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